research Genotype-Phenotype Correlation in Boys with X-Linked Hypohidrotic Ectodermal Dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
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research The Clinical Presentation of Systemic Lupus Erythematosus
Systemic Lupus Erythematosus has varied symptoms and is hard to diagnose, affecting many body parts and requiring careful clinical judgment.
research Clinical Features of Familial Lewy Body Parkinsonism Caused by α-Synuclein Triplication (Iowa Kindred) with Video Documentation
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria
Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
research EGFR Inhibitors and Cutaneous Complications: A Practical Approach to Management
The document provides advice on how to recognize and treat skin-related side effects of cancer drugs known as EGFR inhibitors.
research Innovative Uses for Zinc in Dermatology
Zinc can be a helpful secondary treatment for certain skin conditions, but more research is needed to guide its use.
research Pathological Findings in a Case of Stiff Person Syndrome with Anti-GAD Antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
research Pegylated-Interferon-Alpha 2a in Clinical Practice: How to Manage Patients Suffering from Side Effects
Manage side effects of hepatitis C treatment with dose changes and medications, which may improve patient adherence and treatment success.
research Dermatologic Problems of Older Women
Older women face various skin issues like dryness and thinning, and treatments are available but can have side effects; proper skin care and legal health decisions are important.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Man-Made Disease: Clinical Manifestations of Low Phenylalanine Levels in an Inadequately Treated Phenylketonuria Patient and Mouse Study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research Congenital Atrichia and Hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research No Evidence for THAP1/DYT6 Variants as Disease Modifiers in DYT1 Dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Disorders of the Hair and Scalp in Children
The document concludes that various hair and scalp disorders in children have specific treatments and proper diagnosis is essential.
research The Spectrum of Nephrocutaneous Diseases and Associations
Skin doctors should know about skin and kidney disease links to prevent serious kidney problems.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s Nodular Degeneration of Cornea: A Rare Association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research Ability to Cycle Despite Severe Freezing of Gait in Atypical Parkinsonism in Fahr's Syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
research Encephalitis Lethargica Due to Epstein–Barr Virus Infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research Frontotemporal Dementia with Parkinsonism Presenting as Posterior Cortical Atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Primary Care of Adult Women: Dermatologic Conditions
The document says that common skin conditions in adult women can be treated effectively, with acne being the most common and early-detected melanoma having a high survival rate.
research Antihelminthic Drugs: Impact, Challenges, and Efficacy
Antihelminthic drugs treat worm infections but face challenges like low treatment coverage and potential drug resistance, with various side effects reported for different drugs.
research Hot Topics in Pediatric Dermatology
Covers common skin issues in kids, their diagnosis, treatment, and need for specialist care.
research Office Dermatology
Most skin conditions can be managed with general medical knowledge.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
research A Rare Case of Acrodermatitis Enteropathica in a One-Year-Old Child
A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.
research Index
The document is a detailed medical reference on skin and genetic disorders.
